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Dysfunctional DNA repair pathway via defective FANCD2 gene engenders multifarious exomic and transcriptomic effects in Fanconi anemia

BACKGROUND: Fanconi anemia (FA) affects only one in 130,000 births, but has severe and diverse clinical consequences. It has been theorized that defects in the FA DNA cross‐link repair complex lead to a spectrum of variants that are responsible for those diverse clinical phenotypes. METHODS: Using N...

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Publicado en:Mol Genet Genomic Med
Autores principales: Velmurugan, Karthik Raja, Michalak, Pawel, Kang, Lin, Fonville, Natalie C., Garner, Harold R.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2018
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305641/
https://ncbi.nlm.nih.gov/pubmed/30450770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.502
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